The first signs of citrin deficiency

I gave birth to my son at 38 weeks, and he weighed 2.9kg. At birth, we were told that he did not have jaundice, and he was perfectly normal. However, his thyroid levels were a little high, and the nurses requested for a blood test to be administered. We rejected the blood test, got discharged, and went home afterwards.

He was an exclusively breastfed baby right from birth. We took photos of him every day, as we were very excited first-time parents, and looking back we realize now, how yellow he was. Weeks passed and he became yellower each day. We tried every method we could think of and were advised by our elders, friends, everyone. Every method, you name it, we’ve tried it. We thought that it will eventually go away and we read online that babies with jaundice should be breastfed frequently, to bring down the bilirubin levels.

He was gaining weight at a very steady rate, however, he was a rather small baby. His weight, height, milk consumption, and output were good. The only thing is, his skin was very yellow and his jaundice wasn’t going away at all.

How we found out

At one-month-old, he was still very jaundiced and we felt that was a little strange. Most jaundice will go away on its own after a few weeks, but it was getting worse each day. We decided to bring him to the nearest clinic for a checkup and for his routine vaccination. That was when we found out that something wasn’t right. Blood was drawn and urine samples were taken on the very same day. All tests came out showing that his bilirubin was very high. His bilirubin levels hit 300+ so we were directed to the hospital by the doctor on that day and were advised to bring him to the Children’s Emergency immediately.

We were a little skeptical at this point as none of us understood what it meant exactly. So we went home, decided to wait a few days to see whether his jaundice went down, remained the same, or became worse. We tried a few other methods, like bathing him in flowers we bought from the Chinese Medicine Shop, sun tanning, and even gave him sips of water. A few days later, we realized that all our efforts were not working and we decided to take him to the hospital.

At the hospital, as he was only a month old, he was given priority and that was when we met a consultant in pediatric gastroenterology who had wrongly identified our son and scared us into thinking that he might have biliary atresia. I remember at one point, I suggested to the doctor that we should have sent my son’s blood samples for a genetic test, to rule out any common genetic conditions that we might not know of. However, my request was rejected and we got coerced into agreeing to things that we did not want our one-month-old son to go through. Our son and us went through quite a long and painful diagnosis process. He had to go through an ultrasound, two or three rounds of full-body x-ray which had a significant amount of radiation, and also a biopsy. All these, I felt was unnecessary, a waste of our time, tears, and money.

The biopsy was done when my son was two months old, and on the day the biopsy was done, the results for his genetic test came through and it showed that he has a condition called citrin deficiency.

Meeting our doctor

We met another doctor, an associate consultant for the pediatric genetics & metabolism division at the same hospital. After our nightmare with the doctor earlier, meeting our new doctor was such a huge relief. She’s a great doctor and a very nice lady who understood what we went through and properly diagnosed our son. We were also given proper information and lots of explanation regarding the condition and she advised us both, the parents, to go through genetic testing just to find out if any of us has citrin deficiency or if we were just carriers.

At this point, I also found out that I should stop breastfeeding our son with immediate effect as his galactose levels were very high and he is not able to take any lactose at this point. Till this day, as a former breastfeeding mother, I still miss the bond I used to have with my son. We had to abruptly switch to giving him formula milk – ISOMIL, with dosages of MCT oil every day for every milk feeding.

We had an appointment with our doctor on a monthly basis, until he turned a year old. We were given plenty of advice from our doctor and our dietician. We tracked his milk feedings and MCT oil consumption on a daily basis and made sure that he was on a very strict diet. His jaundice eventually went away, and that was when we thought something is actually working and at last, we knew what was actually going on with our son.

6 months to 1 year old

At six months old, we started to introduce solids to him. But as advised by our dietician, he could not eat what other babies were eating and we had to make all his foods on our own. Meaning no food pouches, no readymade baby food, no yogurt, or anything with lactose. Our dietician was very helpful. Every month during our appointment, she would come up with recipes for us to prepare and give to him. It started with blended food, for example, avocado with tofu, Healthy times oatmeal cereal with chicken and peas, avocado, and banana. Every introductory food we gave, must have a certain Protein Fat Carbohydrate content. We were very diligent in weighing and preparing his food until he reached 1 year old. His blood tests every month showed progress and his liver was getting smaller and less swollen.

At this point, we were very happy that we have him back on track, he is a happy baby and gaining weight. He is still a small framed boy. It could be genetics, as I am also very small-framed, or it could be that he has citrin deficiency. We do not know for sure. He is a very good eater and eats everything we made for him, fruits, vegetables, chicken, fish, tofu etc.

Current

Our son is currently 20 months old now (1 year 8 months) and we’ll soon be celebrating his 2nd birthday soon. We had been through so much together and we’re very happy at this point to have discovered that our son has this condition very early in his life. It gives us more control and we’re able to take precautions now that we know. On most days, we make homemade meals for him, consisting of vegetables, fruits, less carbohydrates, and more protein, and his daily intake of MCT oil. When we’re outside or when we travel, we would make sure that he has protein and also some carbohydrates to keep him going for the day. He does have 3 meals a day, on top of his milk. His favorite foods consist of fish, yellow noodles, chicken satay, and banana. He loves codfish and could eat it for every meal every day if he could, but we try to give him variety, mainly chicken, tofu, beef, or mutton. He has no problem eating rice either and he loves eating in general. He just isn’t too keen on fruits other than banana and papaya.

Useful tips for other parents

Try to control their diet as much as possible and not think about what others might say. Nobody really understands citrin deficiency, unless they are a citrin deficiency parent themselves. So no matter what my parents or other people might say, we will do what is best for our son. At the end of the day, we parents know best, and as mothers, we know that we did our best to teach our kids how best to live their life while having this condition.

Of course, it is best that we weigh their foods according to the PFC ratio recommended by dieticians or doctors. If not, try to make a rough estimation as to how much protein, carbohydrate, and fats our kid needs. I feel that everything should be given in moderation and it’s a trial and error.

What we hope

Lastly, I hope to meet and hear stories from other parents with a similar plight as ours. I would love to meet parents with kids who are older and learn from their experiences. It’s so great that we have a Citrin Foundation dedicated to bringing parents, patients, and researchers together. I hope that schools, teachers, childcare educators, and everyone in the world would eventually be aware of this condition and that they know how important it is for a citrin deficiency patient to be mindful of his/her diet. I find myself trying to explain our son’s condition countless times to my parents and my in-laws, but they still do not quite understand. One day, I also hope that citrin deficiency would be known worldwide and its awareness has reached a level to a point that no parent or patient would have to go through a painful diagnosis process as we did with our son.